PDHA1 and colorectal carcinoma: However, only two patients fulfilled CRC for both sample types; one female newborn diagnosed with PDCD due to a novel heterozygous pathogenic PDHA1 mutation (Met294Ilefs*4) and was started KD at around 5 weeks of age, and one male newborn diagnosed with MtD due to a novel X‐linked hemizygous pathogenic HSD17B10 mutation (Arg29Gly), where the gene encodes an essential component of mitochondrial RNase P required for processing of mitochondrial DNA transcripts.